Drug to treat genetic cause of dwarfism approved
The US Food and Drug Administration (FDA) has approved the first drug to treat the most common form of dwarfism, achondroplasia. This is caused by mutations in the FGFR3 gene, which encodes instructions to build a protein involved in bone growth and development. These mutations push the gene into overdrive, impeding the process by which cartilage tissue gets replaced by bone; this leads to the development of short and abnormally shaped bones and causes people with achondroplasia to be of short stature.
BioMarin Pharmaceutical has been developing and testing a treatment for years. Now that drug has officially been approved for use in children ages five and up. Clinical trials suggest that the drug, Voxzogo, is safe and effective at restoring bone growth in children with achondroplasia – thus boosting height – but it’s unclear whether the drug also counteracts the various health issues that can come with the condition.
Voxzogo, also known by the generic name vosoritide, works by binding to a receptor called natriuretic peptide receptor-B that’s found in bone and cartilage tissues. Once attached to this receptor, the drug sets off a chain reaction that stimulates bone growth and overrides the effects of FGFR3 mutations. If treated throughout childhood, kids with achondroplasia could reach similar heights as children without the condition.
Nicoletta Lanese